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Genetic tests
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Analytes
Gene panels
Disease
Laboratory
Male infertility
Yq11
,
CFTR
,
USP9Y
Partial chromosome Y deletion
,
Congenital bilateral absence of vas deferens
Centre de Génétique Médicale UCL
Alzheimer disease (3 genes)
Alzheimer erly-onset disease (3 genes) -KUL
Centrum Menselijke Erfelijkheid - KUL
Hemophilia A
F8
Hemophilia A
,
Mild hemophilia A
,
Severe hemophilia A
,
Moderate hemophilia A
,
Bleeding disorder in hemophilia A carriers
Centrum Menselijke Erfelijkheid - KUL
Beta-globin hemoglobinopathies (Hot-spot mutations : Sickle cell disease (HBS), hemoglobin C, hemoglobin E or Hemoglobin D)
HBB
Sickle cell anemia
,
Hemoglobin C disease
,
Hemoglobin E disease
,
Hemoglobin D disease
,
Delta-beta-thalassemia
,
Sickle cell-beta-thalassemia disease syndrome
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
Centre de Génétique Humaine - CHU Sart-Tilman
Hypermethylation promoter MLH1 and p.V600 of BRAF1
MLH1
,
BRAF
Lynch syndrome
Centrum Menselijke Erfelijkheid - KUL
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
Dihydropyrimidine dehydrogenase deficiency
Centrum Menselijke Erfelijkheid - KUL
Lynch syndrome - MLH1 promoter hypermethylation and BRAF V600E mutation
MLH1
,
BRAF
Selection of therapeutic option in colorectal cancer
Centre de Génétique Humaine - CHU Sart-Tilman
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